TY - JOUR
T1 - High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1
AU - Rossenwasser-Weiss, Shirel
AU - Orenstein, Naama
AU - Zahavi, Alon
AU - Goldenberg-Cohen, Nitza
N1 - Publisher Copyright:
© 2020 Taylor & Francis Group, LLC.
PY - 2021
Y1 - 2021
N2 - Purpose: To characterize a genetic mutation causing Stickler syndrome in a previously undiagnosed family. Methods: Five generations of a single family suspected of having Stickler syndrome were evaluated clinically and genetically. Results: The demographic and clinical data yielded specific clinical phenotypes of Stickler syndrome in 13 family members; 7 had more than one clinical feature. Four family members underwent genetic analysis: the proband (index patient) and his mother, maternal grandfather, and healthy father. No relevant mutation was detected in the proband on whole exome analysis, but subsequent extension of the analysis to intronic areas yielded a deep intronic mutation, NM_001844.5:c.1527 + 135 G > A. Sanger sequencing was used to validate the results in the family members. Conclusions: Stickler syndrome has several subtypes with variable clinical features. Therefore, predicting the genetic locus of the disease based on clinical characteristics is challenging. We present a rarely described intronic mutation in COL2A1. Genetic testing may aid in the early diagnosis of Stickler syndrome, which is important for genetic counselling, proper clinical management, and improved prognosis.
AB - Purpose: To characterize a genetic mutation causing Stickler syndrome in a previously undiagnosed family. Methods: Five generations of a single family suspected of having Stickler syndrome were evaluated clinically and genetically. Results: The demographic and clinical data yielded specific clinical phenotypes of Stickler syndrome in 13 family members; 7 had more than one clinical feature. Four family members underwent genetic analysis: the proband (index patient) and his mother, maternal grandfather, and healthy father. No relevant mutation was detected in the proband on whole exome analysis, but subsequent extension of the analysis to intronic areas yielded a deep intronic mutation, NM_001844.5:c.1527 + 135 G > A. Sanger sequencing was used to validate the results in the family members. Conclusions: Stickler syndrome has several subtypes with variable clinical features. Therefore, predicting the genetic locus of the disease based on clinical characteristics is challenging. We present a rarely described intronic mutation in COL2A1. Genetic testing may aid in the early diagnosis of Stickler syndrome, which is important for genetic counselling, proper clinical management, and improved prognosis.
KW - Intronic mutation
KW - genetics
KW - myopia
KW - pediatrics
KW - stickler
UR - http://www.scopus.com/inward/record.url?scp=85097399183&partnerID=8YFLogxK
U2 - 10.1080/02713683.2020.1855661
DO - 10.1080/02713683.2020.1855661
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C2 - 33295219
AN - SCOPUS:85097399183
SN - 0271-3683
VL - 46
SP - 1051
EP - 1055
JO - Current Eye Research
JF - Current Eye Research
IS - 7
ER -